An acoustic schwannoma is a benign (non-cancerous) tumor that grows from Schwann cells—the cells that wrap and protect the vestibular (balance) part of the ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
A neurilemmoma, also called a schwannoma, is a benign (non-cancerous) tumor that grows from Schwann cells. Schwann cells wrap around nerves in the body and ...
Acoustic neuroma is a benign (non-cancerous) nerve sheath tumor that grows from Schwann cells. Schwann cells are the support cells that wrap around nerves and ...
Pyramidal molar–glaucoma–upper abnormal lip syndrome is an ultra-rare, inherited condition that affects teeth, the eyes, and the upper lip. It is also called ...
Ackerman fused molar root syndrome (often called Ackerman syndrome) is a very rare, inherited condition in which the back teeth (molars) develop unusual root ...
Ackerman syndrome most commonly refers to an extremely rare, inherited developmental (congenital) condition that affects the teeth, lips/philtrum (the groove ...
Achromatopsia Type 3 is a rare eye condition that you are born with. It happens because of changes (mutations) in a gene called CNGB3. This gene tells the cone ...
Achromatopsia 2 (ACHM2) is a genetic eye condition that starts from birth. It mainly affects the cone cells in the retina, which are the light-sensing cells ...
Pingelapese blindness is a rare, inherited eye condition. People with it see the world in shades of gray. They cannot see color. Bright light hurts their eyes ...
Incomplete color blindness means a person’s eyes and brain do not read color in the usual way. Colors may look faded, mixed up, or too similar. Most people ...
Mitochondria it’s a big word for tiny structures found in almost every human cell. But, as researchers are learning, these capsule-shaped structures likely ...
Chondrodystrophia (often called chondrodystrophy) is not one single disease. It is a group of rare conditions where the cartilage in a growing child does not ...
Achondroplasia is a genetic bone growth condition. It mainly affects the long bones of the arms and legs. The word means “without cartilage growth,” but the ...
Achondrogenesis is a very rare genetic bone growth disorder. It starts before birth. In this condition, the baby’s skeleton does not form normally. The bones ...
Acheiropody (also called acheiropodia or Horn-Kolb syndrome) is a very rare genetic condition present from birth in which a baby is born without formed hands ...
Congenital absence of the hand means a baby is born without a hand. It happens during early pregnancy when the limb does not form fully. The rest of the arm ...
Acheiria means a person is born without one hand (unilateral) or both hands (bilateral). It is a type of congenital limb reduction where the hand does not form ...
Achalasia–microcephaly is an extremely rare, likely inherited condition in which a child has achalasia (the food pipe does not relax and move food down ...
Achalasia–microcephaly syndrome (AMS) is an extremely rare genetic disorder in which a child has both achalasia (the food pipe does not relax and push food ...
Hypoceruloplasminemia means your blood has less ceruloplasmin than normal. Ceruloplasmin is a copper-carrying enzyme made mainly in the liver. Its most ...
Hereditary ceruloplasmin deficiency is a rare genetic disease. It is passed down in families. A small change in a single gene stops the body from making a ...
Aceruloplasminemia is a very rare, inherited disease. In this disease, the body does not make a working protein called ceruloplasmin. Ceruloplasmin normally ...
An accessory pancreas means there is a small piece of normal pancreatic tissue that sits outside the main pancreas. It grew there during early life in the ...
Catalase deficiency means the body does not have enough of an enzyme called catalase. Catalase is a natural “safety” protein inside our cells. Its main job is ...
Acatalasia is a very rare health condition where the body has little or no catalase enzyme. Catalase is an important antioxidant enzyme that lives inside our ...
Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic ...
Acalvaria is a very rare birth defect. The baby grows without the flat bones of the skull cap (the “top” of the head). The tough brain covering (dura mater) ...
Holmes–Collins syndrome is an extremely rare genetic condition present from birth. Children have a combination of limb differences (most characteristically a ...
Absent tibia–polydactyly–arachnoid cyst syndrome is an extremely rare genetic condition first described in 1995. Babies are born with a combination of problems ...
Absent radius–anogenital anomalies syndrome is a very rare, genetic condition present from birth. The key features are: (1) the radius bone in the forearm is ...
Baird syndrome is a very rare genetic skin condition. Babies are born without the usual lines and ridges on the palms and soles, so they do not have ...
Absence of fingerprints–congenital milia syndrome is a very rare inherited skin condition in which a person is born without the usual ridge patterns on the ...
Cleft palate–coloboma–deafness syndrome is a very rare genetic condition seen at birth. Children have three core findings: a cleft palate (an opening ...
Abruzzo–Erickson syndrome (often shortened to AES) is an extremely rare, inherited condition that affects several parts of the body from birth. The most common ...
Familial dementia means dementia that runs in a family. It happens because of changes in genes. These gene changes can be passed from a parent to a child. When ...
Ablepharon-macrostomia syndrome is a very rare genetic condition present from birth. It mainly affects parts of the body that come from the outer layer of the ...
Abdominal cystic lymphangioma is a rare, non-cancerous growth made of abnormal lymphatic vessels that form one or more fluid-filled cysts inside the abdomen. ...
Hydrocephalus-cleft palate-joint contractures syndrome is a very rare birth condition. Babies are born with three main problems: Hydrocephalus. This ...
Aase-Smith syndrome is a rare genetic disorder characterized by a buildup of fluid in the brain (hydrocephalus) due to a brain abnormality called Dandy-Walker ...
Cholestasis-edema syndrome is a rare, inherited condition in which bile cannot flow out of the liver normally (cholestasis) and lasting swelling (lymphedema) ...
AA-amyloidosis is a disease where an abnormal protein called AA (amyloid A) slowly builds up in body tissues and organs. This protein comes from another ...
